Yalaz K, Topçu M, Topaloğlu H, Gürçay O, Ozcan O E, Onol B, Renda Y
Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
Neuropediatrics. 1990 Aug;21(3):140-2. doi: 10.1055/s-2008-1071481.
Increased amounts of urinary N-acetyl-aspartic acid was found in two infants with biopsy proven Canavan disease. The aspartoacylase assay is a new tool for determining both the prenatal and antenatal diagnosis of Canavan disease. This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan.
在两名经活检证实患有卡纳万病的婴儿中发现尿中N-乙酰天冬氨酸含量增加。天冬氨酸酰基转移酶测定是一种用于确定卡纳万病产前和出生前诊断的新工具。对于出现精神运动发育迟缓、巨头畸形、痉挛/肌张力减退且CT扫描显示白质高密度的早期患者，应进行此项测定。
